Mutagenetix > Incidental Mutation

Incidental Mutation 'R2005:Ddx10'

225386

Institutional Source

Beutler Lab

Gene Symbol

Ddx10

Ensembl Gene

ENSMUSG00000053289

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 10

Synonyms

4632415A01Rik

MMRRC Submission

040014-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R2005 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53098635-53248053 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 53240475 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000065198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065630]

AlphaFold

Q80Y44

Predicted Effect

probably null
Transcript: ENSMUST00000065630

SMART Domains

Protein: ENSMUSP00000065198
Gene: ENSMUSG00000053289

Domain	Start	End	E-Value	Type
low complexity region	24	43	N/A	INTRINSIC
DEXDc	88	291	1.74e-53	SMART
HELICc	327	410	8.48e-25	SMART
DUF4217	450	513	6.06e-25	SMART
low complexity region	577	594	N/A	INTRINSIC
low complexity region	627	637	N/A	INTRINSIC
low complexity region	658	680	N/A	INTRINSIC
low complexity region	748	773	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it may be involved in ribosome assembly. Fusion of this gene and the nucleoporin gene, NUP98, by inversion 11 (p15q22) chromosome translocation is found in the patients with de novo or therapy-related myeloid malignancies. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous allele exhibit craniofacial defects, including decreased cranium length, cleft palate, and short snout, and show reduced body size, body weight, lean body mass, and bone mineral content. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,877,827	A961V	probably benign	Het
Adcy10	A	G	1: 165,525,022	Y475C	probably benign	Het
Adgrb3	T	C	1: 25,111,718	M1145V	probably benign	Het
Akr1c21	A	G	13: 4,574,215	T23A	probably damaging	Het
Ankrd33b	A	T	15: 31,297,668	S314R	probably damaging	Het
Apc	T	C	18: 34,310,909		probably null	Het
Atg9a	T	A	1: 75,185,991	Q460L	probably benign	Het
Birc3	C	T	9: 7,860,341	C292Y	probably damaging	Het
Capn5	T	C	7: 98,129,363	I350V	probably benign	Het
Cc2d2a	G	A	5: 43,726,373		probably null	Het
Cdh22	T	A	2: 165,180,923	E76V	probably damaging	Het
Cdh8	T	C	8: 99,033,471		probably null	Het
Cdkn1b	ATTCTTCTTC	ATTCTTCTTCTTC	6: 134,921,956		probably benign	Het
Cfap54	T	A	10: 92,884,768	D2608V	unknown	Het
Crebrf	T	C	17: 26,742,883	V318A	possibly damaging	Het
Cwf19l2	A	T	9: 3,430,720	N351Y	possibly damaging	Het
Cyp2c67	A	T	19: 39,643,345	M136K	probably damaging	Het
Ddx47	A	G	6: 135,018,121	N92S	probably benign	Het
Ddx50	T	A	10: 62,640,464	H306L	probably benign	Het
Dnajc27	A	G	12: 4,097,317	T167A	possibly damaging	Het
Dscam	T	G	16: 97,038,920	K162N	probably benign	Het
Eif4h	G	A	5: 134,627,677	T53I	probably benign	Het
Elmo2	T	C	2: 165,298,279	N332S	probably benign	Het
Ergic3	A	G	2: 156,011,108	N157S	possibly damaging	Het
F2rl1	G	T	13: 95,513,274	R367S	probably damaging	Het
Fbxo36	G	A	1: 84,900,069	A151T	probably benign	Het
Foxf2	G	T	13: 31,626,141	R21L	unknown	Het
Gmip	T	A	8: 69,814,043	H269Q	probably benign	Het
Gng4	T	A	13: 13,806,166	V32E	probably benign	Het
Grm3	T	C	5: 9,589,793	Y84C	possibly damaging	Het
Helz2	C	T	2: 181,231,329	R2396H	probably benign	Het
Icosl	A	T	10: 78,071,953	M116L	possibly damaging	Het
Itgb3bp	A	C	4: 99,814,058	N16K	probably benign	Het
Kcnt2	A	G	1: 140,553,018	M824V	probably damaging	Het
Mki67	T	A	7: 135,698,509	K1599*	probably null	Het
Mmp25	G	A	17: 23,640,242	R144W	probably damaging	Het
Mmrn1	A	T	6: 60,976,084	I450F	possibly damaging	Het
Mroh2b	A	T	15: 4,917,158	K480M	probably damaging	Het
Nbn	T	A	4: 15,979,351	D445E	probably benign	Het
Npbwr1	T	A	1: 5,916,351	S315C	probably damaging	Het
Olfr1118	T	A	2: 87,309,448	S240T	probably benign	Het
Olfr1166	A	G	2: 88,124,547	L146P	probably damaging	Het
Olfr378	A	T	11: 73,425,239	V248E	probably damaging	Het
Olfr828	G	A	9: 18,815,505	S263L	probably benign	Het
Pard3b	A	T	1: 62,144,891	E183D	probably benign	Het
Pde10a	G	A	17: 8,929,091		probably null	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Prdm13	T	C	4: 21,685,695		probably benign	Het
Rc3h2	T	A	2: 37,389,753	K461*	probably null	Het
Reep2	C	T	18: 34,845,621	T117M	probably damaging	Het
Rhbdd1	A	G	1: 82,340,810	N138S	probably benign	Het
Rnf19a	A	T	15: 36,241,770	F708I	possibly damaging	Het
Robo2	G	A	16: 73,933,115	H1069Y	possibly damaging	Het
Rpl9	C	T	5: 65,389,535	V112I	probably benign	Het
Sec16a	A	C	2: 26,439,080	S974R	probably benign	Het
Sfrp5	A	G	19: 42,198,836	M265T	probably benign	Het
Skint7	T	C	4: 111,984,850	I305T	probably benign	Het
Slc6a7	T	C	18: 61,001,641	D454G	possibly damaging	Het
Slco6c1	A	G	1: 97,081,489	I407T	probably damaging	Het
Slfn8	A	T	11: 83,004,150	M610K	probably damaging	Het
Spidr	A	G	16: 16,048,049	S299P	probably damaging	Het
Sptbn4	C	T	7: 27,366,419	W2034*	probably null	Het
Stard9	T	A	2: 120,664,945	F100L	possibly damaging	Het
Stard9	C	A	2: 120,673,636	S221R	probably damaging	Het
Stc1	T	C	14: 69,031,647		probably null	Het
Sun2	T	C	15: 79,726,624	E667G	possibly damaging	Het
Tacc2	T	C	7: 130,731,550	S511P	probably damaging	Het
Tasp1	T	G	2: 139,977,678	K202Q	probably damaging	Het
Tdrd6	A	G	17: 43,628,655	F501L	probably damaging	Het
Tgds	A	G	14: 118,130,656	V35A	possibly damaging	Het
Tubgcp6	G	A	15: 89,104,166	T860I	probably benign	Het
Twf1	C	T	15: 94,585,447		probably null	Het
Vangl1	A	G	3: 102,163,466	S385P	probably benign	Het
Vmn2r117	A	G	17: 23,477,644	I263T	probably damaging	Het
Washc5	A	G	15: 59,341,155	L892P	possibly damaging	Het
Wnk4	T	C	11: 101,263,890	C302R	probably damaging	Het
Zfp395	A	G	14: 65,388,885	E191G	possibly damaging	Het
Zkscan17	A	G	11: 59,492,216	L302P	probably damaging	Het

Other mutations in Ddx10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Ddx10	APN	9	53160026	splice site	probably benign
IGL01111:Ddx10	APN	9	53159948	missense	possibly damaging	0.73
IGL01773:Ddx10	APN	9	53204130	missense	possibly damaging	0.94
IGL01837:Ddx10	APN	9	53229198	missense	probably benign	0.16
IGL02036:Ddx10	APN	9	53204183	missense	probably benign	0.00
IGL02236:Ddx10	APN	9	53235382	missense	probably damaging	1.00
IGL02939:Ddx10	APN	9	53204279	missense	possibly damaging	0.63
IGL03294:Ddx10	APN	9	53117152	critical splice donor site	probably null
R0279:Ddx10	UTSW	9	53235304	missense	probably damaging	1.00
R1439:Ddx10	UTSW	9	53240487	missense	probably damaging	1.00
R1501:Ddx10	UTSW	9	53233997	missense	possibly damaging	0.85
R1529:Ddx10	UTSW	9	53117199	nonsense	probably null
R1548:Ddx10	UTSW	9	53149561	critical splice acceptor site	probably null
R1717:Ddx10	UTSW	9	53159953	missense	probably benign	0.25
R1720:Ddx10	UTSW	9	53238071	missense	probably damaging	1.00
R1781:Ddx10	UTSW	9	53207545	missense	probably damaging	1.00
R2007:Ddx10	UTSW	9	53213278	missense	probably benign	0.06
R2073:Ddx10	UTSW	9	53240505	missense	probably benign	0.28
R2075:Ddx10	UTSW	9	53240505	missense	probably benign	0.28
R2133:Ddx10	UTSW	9	53149512	missense	probably benign	0.13
R4660:Ddx10	UTSW	9	53236398	critical splice donor site	probably null
R4668:Ddx10	UTSW	9	53099213	missense	possibly damaging	0.55
R4706:Ddx10	UTSW	9	53233931	missense	probably damaging	1.00
R4814:Ddx10	UTSW	9	53204105	missense	possibly damaging	0.54
R5394:Ddx10	UTSW	9	53233857	nonsense	probably null
R5655:Ddx10	UTSW	9	53209687	critical splice donor site	probably null
R5874:Ddx10	UTSW	9	53229198	missense	possibly damaging	0.95
R6341:Ddx10	UTSW	9	53204251	missense	probably benign	0.00
R6534:Ddx10	UTSW	9	53223688	missense	probably damaging	1.00
R6801:Ddx10	UTSW	9	53247907	nonsense	probably null
R6994:Ddx10	UTSW	9	53204111	missense	probably damaging	0.99
R7155:Ddx10	UTSW	9	53117288	missense	probably benign	0.00
R7380:Ddx10	UTSW	9	53240486	missense	probably damaging	1.00
R7753:Ddx10	UTSW	9	53225604	missense	probably damaging	1.00
R8101:Ddx10	UTSW	9	53225520	missense	probably damaging	0.98
R8782:Ddx10	UTSW	9	53235288	missense	probably damaging	0.99
R8962:Ddx10	UTSW	9	53238077	missense	probably damaging	1.00
R8998:Ddx10	UTSW	9	53229234	missense	possibly damaging	0.64
R8999:Ddx10	UTSW	9	53229234	missense	possibly damaging	0.64
R9283:Ddx10	UTSW	9	53235356	missense	probably benign	0.01
X0019:Ddx10	UTSW	9	53233996	missense	probably damaging	1.00
X0063:Ddx10	UTSW	9	53225573	missense	probably damaging	1.00
Z1177:Ddx10	UTSW	9	53204511	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCTAGAAAGCTCAATCAGTAACG -3'
(R):5'- CCAAATGAGGTTGCTCCATGG -3'

Sequencing Primer
(F):5'- GCTCAATCAGTAACGTGCATG -3'
(R):5'- AAGTGATGGTATGCTCCTAATTTTG -3'

Posted On

2014-08-25